N/A
N=970
Genomic Sequencing for Childhood Risk and Newborn Illness
Hereditary Disease · Genetic Predisposition to Disease
Bottom Line
View on ClinicalTrials.gov: NCT02422511 ↗Enrolled (actual)
970
Serious AEs
0.0%
Results posted
Aug 2021
Primary outcome: Primary: Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care — 0.1; 0.0; 3.1; 3.8 Days
Study Design & Population
- Study type
- Interventional
- Phase
- N/A
- Interventions
- Genomic sequencing (Genetic); Family history report (Other)
- Age
- Pediatric, Adult, Older Adult
- Sex
- All
- Sponsor
- Brigham and Women's Hospital
- Primary completion
- Apr 2020
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Downstream Health Care Costs Attributable to BabySeq Project Disclosure: Days of Inpatient Care |
0.1; 0.0; 3.1; 3.8 | — |
| PRIMARY Parents' Distress |
2.6; 2.75; 3.04; 3.28; 2.19; 2.34 | — |
| PRIMARY Parent-Child Relationship |
1.6; 1.35; 1.45; 1.71; 1.18; 1.15 | — |
| PRIMARY Parents' Relationship |
15.0; 13.14; 12.94; 12.92; 1.92; 1.99 | — |
| PRIMARY Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Health Care Provider Visits |
5.4; 5.9; 4.9; 6.3 | — |
| PRIMARY Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Current Medications at 10 Months |
1.7; 1.4; 0.5; 1.8 | — |
| PRIMARY Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of ER Visits |
0.3; 0.4; 0.5; 0.3 | — |
| PRIMARY Downstream Health Care Utilization Attributable to BabySeq Project Disclosure: Number of Outpatient Lab Tests |
0.2; 0.1; 0.0; 0.1 | — |
| PRIMARY Downstream Health Care Utilization Attributable to BabySeq Project Disclosure |
424; 301; 23472; 25012; 1348; 1440 | — |
| SECONDARY Change in Perceived Utility Toward Genomic Sequencing |
3.78; 3.77; 4.13; 3.76; 3.83; 4.23 | — |
Summary
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
The investigators will enroll 240 healthy infants and their parents from the Brigham and Women's Hospital (BWH) Well Newborn Nursery and 240 sick infants and their parents at Boston Children's Hospital (BCH) or the BWH Neonatal Intensive Care Unit (NICU). A small blood sample will be collected from each infant and genome sequencing may be performed. Six weeks later, results are returned and explained. Over 12 months the investigators are studying the experiences of parents and pediatricians of infants who receive sequencing to help understand how best to use genomics in pediatric care.
Eligibility Criteria
Newborns and Parents at Brigham and Women's Hospital (BWH) Well Newborn Nursery:
Inclusion Criteria
- Infants born at BWH and admitted to the Well Newborn Nursery
- At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
- Mother (either rearing or biological) carried the pregnancy
Exclusion Criteria
- Parents are non-English speaking
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Mother or father younger than 18 years of age
- Mother or father with impaired decisional capacity
- Age of infant is older than 30 days
- One of a multiple gestation
- Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- Missing consent of either biological parent (if known) or rearing parent (if applicable)
Sick Newborns and Parents at Boston Children's Hospital (BCH) or the BWH NICU:
Inclusion Criteria
- Infants admitted to BCH or the BWH NICU
- At least one biological parent is physically available to have genetic counseling, donate DNA, and provide consent for testing the infant. If the second biological parent is known but not physically present, the second biological parent must be available to have genetic counseling by phone, return a signed consent form by mail, and donate DNA via a mailed saliva kit. If there is a "rearing parent" (an individual who is not biologically related to the infant, but who is dedicated to raising the child), that individual must also provide consent but will not be asked to submit a saliva sample.
- Mother (either biological or rearing) carried the pregnancy
Exclusion Criteria
- Parents are non-English speaking
- Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
- Mother or father younger than 18 years of age
- Mother or father with impaired decisional capacity
- Age of infant is older than 30 days
- One of a multiple gestation
- Any infant in which clinical considerations preclude drawing 1.0 ml of blood
- Hospital admission expected to be less than 72 hours
- Missing consent of either biological parent (if known) or rearing parent (if applicable)
- Previously performed exome/genome sequencing on patient
Data sourced from ClinicalTrials.gov (NCT02422511). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.